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Updated: Sep 19, 2025

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在TTLL5-关联缩症的关键表型特征作为Tapetal-like光泽,由新型变异引起的

Yi Zhai1, Rita Kodida2,3,4, Brian G Ballios2,3,5,4

  • 1Division of Clinical and Metabolic Genetics, Department of Pediatrics, The Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.

American journal of ophthalmology case reports
|June 19, 2025
PubMed
概括

一种新的TTLL5基因变异导致了带有面膜反射的形缩,最初由于误诊而错过. 准确的表型确定对于诊断遗传性视网膜疾病至关重要.

关键词:
状缩症 状缩症 状缩症视网膜 (retina) 是一个视网膜.TTLL5 TTLL5 的时间带带的反射反应 (tapetal reflex) 是一种反射反应.

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